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Lynch Syndrome (CUI C1333990) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C1333990

NCI Thesaurus Code: C8494  (see NCI Thesaurus info)

Semantic Type: Neoplastic Process

NCIt Definition: An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.

GARD Definition: Lynch syndrome is an inherited condition that causes an increased risk of developing cancer. Individuals with Lynch syndrome have a higher risk of developing colon and rectal cancer, as well as cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Women with Lynch syndrome also have a high risk of developing uterine cancer (also called endometrial cancer) and ovarian cancer. Even though the disorder was originally described as not involving noncancerous (benign) growths (polyps) in the colon, people with Lynch syndrome may occasionally have colon polyps. Lynch syndrome has an autosomal dominant pattern of inheritance and is caused by a mutation in the MLH1, MSH2, MSH6, PMS2 or EPCAM gene. - this information is from GARD/ORDR/NCATS.

PDQ Definition: An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present. Check for active clinical trials using this agent. (NCI Thesaurus)

SNOMEDCT_US Definition: Patients and families with a germline mutation in one of the DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) or the EPCAM gene but who have not met the criteria for hereditary nonpolyposis colon cancer.

Synonyms & Abbreviations: (see Synonym Details)
Colon cancer, familial nonpolyposis
colon cancer, hereditary non-polyposis - Lynch syndrome
Colorectal Cancer Hereditary Nonpolyposis
Familial Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2)
Familial nonpolyposis colon cancer
Hereditary Colorectal Endometrial Cancer Syndrome
Hereditary Defective Mismatch Repair Syndrome
Hereditary Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2)
hereditary non-polyposis colon cancer
Hereditary Nonpolyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2)
Hereditary nonpolyposis colon cancer
hereditary nonpolyposis-Lynch syndrome
HNPCC
Lynch Cancer Family Syndrome I
Lynch syndrome (disorder)
Lynch Syndrome I
Lynch syndrome
Syndrome, Lynch

External Source Codes: 
NCI Thesaurus Code C8494 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CTV3ID XUtd9 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2012-02-26 PDQ
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 20749 GARD
DISEASE_IDENTIFIER_ID 20750 GARD
DISEASE_IDENTIFIER_ID 20751 GARD
DISEASE_IDENTIFIER_ID 30703 GARD
EFFECTIVE_TIME 20160731 SNOMEDCT_US
HAS_GARD_PAGE true GARD
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
NCI_THESAURUS_CODE C8494 PDQ
Neoplastic_Status Malignant NCI
ORIG_STY Genetic condition PDQ
PID 6643 PDQ
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/9905/lynch-syndrome/resources/1 GARD
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_STATUS I MDR
SMQ_TERM_WEIGHT 0 MDR
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Z80.9 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Z80.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Z15.09 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Z15.09 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUtd9 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
TERMUI T009105 MSH
TERMUI T009107 MSH
TERMUI T529657 MSH
TERMUI T529658 MSH
TERMUI T750093 MSH
TERMUI T750094 MSH
TH GHR (2014) MSH
TH NLM (1992) MSH
TH NLM (2004) MSH
TH NLM (2010) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C1333990

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